MRT54
MCID: MNT277
MIFTS: 19

Mental Retardation, Autosomal Recessive 54 (MRT54)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 54

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 54:

Name: Mental Retardation, Autosomal Recessive 54 57 72 29 6
Mrt54 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated consanguineous families have been reported (last curated july 2016)


HPO:

31
mental retardation, autosomal recessive 54:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617028
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Recessive 54

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 54: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity.

MalaCards based summary : Mental Retardation, Autosomal Recessive 54, is also known as mrt54. An important gene associated with Mental Retardation, Autosomal Recessive 54 is TNIK (TRAF2 And NCK Interacting Kinase). Related phenotypes are intellectual disability and delayed speech and language development

More information from OMIM: 617028 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 54

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 54

Human phenotypes related to Mental Retardation, Autosomal Recessive 54:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 delayed speech and language development 31 HP:0000750
3 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
normal motor development
delayed speech

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Clinical features from OMIM®:

617028 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 54

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 54

Genetic Tests for Mental Retardation, Autosomal Recessive 54

Genetic tests related to Mental Retardation, Autosomal Recessive 54:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 54 29 TNIK

Anatomical Context for Mental Retardation, Autosomal Recessive 54

Publications for Mental Retardation, Autosomal Recessive 54

Articles related to Mental Retardation, Autosomal Recessive 54:

# Title Authors PMID Year
1
A null mutation in TNIK defines a novel locus for intellectual disability. 6 57
27106596 2016
2
TNiK is required for postsynaptic and nuclear signaling pathways and cognitive function. 57
23035106 2012

Variations for Mental Retardation, Autosomal Recessive 54

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 54:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNIK NM_015028.4(TNIK):c.538C>T (p.Arg180Ter) SNV Pathogenic 243022 rs886037841 GRCh37: 3:170906592-170906592
GRCh38: 3:171188803-171188803
2 TNIK NM_015028.4(TNIK):c.2869A>G (p.Met957Val) SNV Uncertain significance 1029340 GRCh37: 3:170805148-170805148
GRCh38: 3:171087359-171087359
3 TNIK NM_015028.4(TNIK):c.2724G>T (p.Thr908=) SNV Uncertain significance 1031854 GRCh37: 3:170805293-170805293
GRCh38: 3:171087504-171087504
4 TNIK NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) SNV Uncertain significance 1031855 GRCh37: 3:170805288-170805288
GRCh38: 3:171087499-171087499

Expression for Mental Retardation, Autosomal Recessive 54

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 54.

Pathways for Mental Retardation, Autosomal Recessive 54

GO Terms for Mental Retardation, Autosomal Recessive 54

Sources for Mental Retardation, Autosomal Recessive 54

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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